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Hilversum, Netherlands: Evelien’s son has Kleefstra syndrome, a rare genetic condition

Dutch parenting interview with Evelien Vennema, whose 4-year-old son Jens has Kleefstra syndrome and multiple disabilities. She describes balancing work, childcare, special education, respite care, family support, fatigue, therapy, and uncertainty about Jens’s future development.

• LINDA.nl

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Fundraising English Directly KS related

Claire's fundraiser for Kleefstra Syndrome UK

Claire Keightley is raising money for Kleefstra Syndrome UK by taking on the Welsh Three Peaks Challenge in honour of her son James and other families affected by Kleefstra syndrome. The page describes James’s developmental delays, communication difficulties and family challenges, and asks for donations to support awareness, research and family support.

• Claire Keightley / JustGiving

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Scientific Article English Mentions KS

Cytogenetic Findings and Pregnancy Outcomes in Fetuses With Apparently Isolated Increased Nuchal Translucency or Cystic Hygroma

Retrospective cohort of 81 fetuses with increased nuchal translucency (fluid at the back of the neck) or cystic hygroma found chromosomal abnormalities in 43.2%, most often trisomy 21. Among normal-karyotype fetuses, live birth was common. Exome sequencing in selected cases gave mixed, unconfirmed findings and should not be read as a cohort diagnostic yield. One of the cases has Kleefstra Syndrome.

• İnce O.; DİNÇ C.; İnce E.; ÖZ Ö. F.; DAĞDELEN C.; MANGUOĞLU A. E.; MENDİLCİOĞLU İ. İ.; Clinical and Experimental Obstetrics and Gynecology

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Scientific Article English Mentions KS

From Isolated to Complex: Diagnostic Yield of Chromosomal Microarray and Exome Sequencing in Fetal Growth Restriction

Scientific article in Prenatal Diagnosis. Based on the abstract excerpt, it aims to assess how often chromosomal microarray and exome sequencing find genetic diagnoses across different presentations of fetal growth restriction. This is relevant to prenatal genetic diagnosis generally, but no KS-specific link is shown.

• Hadas Miremberg et al., Prenatal Diagnosis (Wiley)

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Research English Mentions KS

School Activities for Students With Disabilities Using a Speaking Pen: Case Studies

Book chapter/case studies describing a speaking pen system that reads sticker icons with dot codes and plays recorded speech. In four special-needs schools, it helped nonverbal students or those with unclear speech take part in classroom activities.

• Noriko Saotome, Keiko Ozaki, Jinko Tomiyama, Satomi Kaiami Nakatake, Kazue Kanno, Kiyoji Koreeda, and Shigeru Ikuta; IGI Global Scientific Publishing

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Research English Mentions KS

DNA Methylation Episignatures Emerge as a Powerful New Diagnostic Layer

A review argues that DNA methylation episignatures can add a functional diagnostic layer for rare genetic disorders when standard genomic testing does not find an answer. Kleefstra syndrome is mentioned briefly as an EHMT1-related condition involving disrupted H3K9 methylation.

• Juliet Wilcox — Scienmag: Latest Science and Health News

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Research German Directly KS related

EHMT2 Variants: Seven New Genetic Changes Point to Kleefstra Syndrome

A news report summarizes a Nature Communications study of seven de novo EHMT2 variants in patients and a mouse model. The variants made stable but inactive G9a, an enzyme that helps regulate gene activity through histone methylation. Findings resembled KS1; researchers propose a separate EHMT2-associated Kleefstra syndrome classification.

• Redaktion ad-hoc-news.de

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Research English Directly KS related

University of Manchester Researchers Identify EHMT2 Variants Linked to Kleefstra Syndrome

Archyde reports on a Nature Communications study identifying seven de novo EHMT2 variants with molecular and clinical parallels to Kleefstra syndrome. Cell and mouse-model findings suggest altered G9a proteins lose enzyme activity and disrupt epigenetic gene regulation, supporting improved genetic diagnosis.

• Priya Deshmukh - Senior Editor, Health, Archyde

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Scientific Article English Directly KS related

27.1 Missed for 3 Years: Delayed Diagnosis of Catatonia and a New Diagnosis of Kleefstra Syndrome

The article title reports a delayed diagnosis of catatonia over 3 years and a new diagnosis of Kleefstra syndrome.

• Anastasia M. Klott — Journal of the American Academy of Child & Adolescent Psychiatry

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Scientific Article English Mentions KS

Iron and Other Metal Ions in Human Health and Disease

This review discusses how metal ions such as iron, copper, zinc, and calcium support normal cell function and can contribute to disease when their balance is disrupted. It briefly mentions Kleefstra Syndrome.

• Xiaofeng Dai and Jitian Li; MedComm/Wiley Online Library

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Scientific Article English Directly KS related

Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders

This scientific article describes a pipeline linking rapid genetic diagnosis with patient-derived stem cells, lab-grown neurons, and in vitro screening of oligonucleotide therapies for neurodevelopmental disorders. In 81 probands, the authors present the approach and report a proof of principle for Kleefstra syndrome; this is laboratory-stage work, not a proven treatment.

• Julia Macintosh et al., The American Journal of Human Genetics

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Scientific Article English Mentions KS

The Angelman Mimic: Navigating Diagnostic Uncertainty in a Genetically Diverse Landscape

Preprint study of 39 children with Angelman syndrome or Angelman-like features found overlapping symptoms across diagnosed, AS-like, and unsolved groups. Genetic testing identified UBE3A-related Angelman cases and variants in other genes in AS-like cases, supporting comprehensive genetic testing for accurate diagnosis.

• Safiye Gunes Sager, Omar Alomari, Oguzhan Demir, Merve Akcay, Ogun Bebek, Metin Eser, Ayberk Turkyilmaz, Alper Han Cebi, Ali Cansu; Research Square

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Scientific Article English Mentions KS

Undiagnosed but Not Forgotten: A Call to Action on Global Undiagnosed Day 2025

Case report describing a 2025 hybrid international event for people with undiagnosed rare conditions. Experts reviewed 11 complex cases; 3 received likely diagnostic directions and suggested follow-up tests, but most remained without a diagnosis. Kleefstra syndrome was listed only as a possible differential diagnosis for one participant.

• Zhi Min Yap, Saumya Shekhar Jamuara, Helene Cederroth, Mikk Cederroth, Gareth Baynam, David A. Pearce; Rare/Elsevier

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Research English Directly KS related

Kleefstra Syndrome Type 1 – Detailed Clinical Surveillance Scheme

A report adapting the International Clinical Evidence-based Guideline for Kleefstra Syndrome. It summarizes key surveillance recommendations for professionals caring for people with Kleefstra syndrome type 1, caused by EHMT1, to support individual-level monitoring.

• Tanja Zdolsek Draksler, Myrthe Verhees-Out, Carla Sloof, Tjitske Kleefstra

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Research English Directly KS related

Kleefstra Syndrome Type 1: Practical Care Guide for Families and Professionals

Plain-language guide translating the international clinical guideline for Kleefstra syndrome type 1, caused by EHMT1-related changes. It offers practical recommendations for families and professionals across health, education, social care, and advocacy to support consistent care throughout life.

• Tanja Zdolsek Draksler, Carla Sloof, Myrthe Verhees-Out, Tjitske Kleefstra

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